ArticleNature communications2019
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
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Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers.
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86citing papers in PubMed
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Who cites it
86 citing papers in PubMed, 164 citations in OpenAlex.
- Toward the clinical application of long-read sequencing in repeat-expansion disorders.Nature genetics · 2026Review
- Pentanucleotide repeat instability and transmission in benign adult familial myoclonic epilepsy types 1, 4, and 8.Epilepsia · 2026Article
- Article
- Embryonic spinocerebellar ataxia type 37-associated AUUUC repeat RNA causes neurodevelopmental defects.Disease models & mechanisms · 2026Article
- The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.Cell reports · 2026Article
- Diagnostic accuracy of combinatorial mRNA biomarkers for non-invasive detection and therapy monitoring of oral and oropharyngeal SCC.British journal of cancer · 2026Article
- Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsy.BMC medical genomics · 2025Article
- The continued promise of genomic technologies and software in neurogenetics.Journal of neuromuscular diseases · 2025Review
- Familial adult myoclonus epilepsy: A comprehensive diagnostic strategy for clinical practice.Epilepsia · 2025Review
- Diverse short tandem repeat sequences influence gene regulation in human populations.Genome biology · 2025Article
- Intronic hexanucleotide repeat expansion inBiomedical reports · 2025Article
- Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Multisample motif discovery and visualization for tandem repeats.Genome research · 2025Article
- Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes.Epilepsia open · 2025Review
- Origin and evolution of pentanucleotide repeat expansions at the familial cortical myoclonic tremor with epilepsy type1 - SAMD12 locus.European journal of human genetics : EJHG · 2025Article
- Clinical efficacy of low-dose Perampanel correlates with neurophysiological changes in familial adult myoclonus epilepsy 2.Epilepsia open · 2025Observational
- Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity.bioRxiv : the preprint server for biology · 2025Article
- Enhanced detection and genotyping of disease-associated tandem repeats using HMMSTR and targeted long-read sequencing.Nucleic acids research · 2025Article
- Novel, complex configurations of theBrain communications · 2025Article
26 more citing papers are in PubMed but not listed here.
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Authors and funding
69 authors at 20 institutions in 12 countries.
Mark A CorbettAdelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.ORCID http://orcid.org/0000-0001-9298-3072
Thessa KroesAdelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.
Liana VenezianoInstitute of Translational Pharmacology, National Research Council, Rome, Italy.ORCID http://orcid.org/0000-0002-9921-8450
Mark F BennettPopulation Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, VIC, Australia.ORCID http://orcid.org/0000-0002-3561-6804
Rahel FlorianInstitut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Amy L SchneiderEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia.ORCID http://orcid.org/0000-0001-5260-7187
Antonietta CoppolaDepartment of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Napoli, Italy.
Laura LicchettaIRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
Silvana FranceschettiNeurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Antonio SuppaDepartment of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, 00185, Rome, Italy.ORCID http://orcid.org/0000-0001-9903-5550
Aaron WengerPacific Biosciences, Menlo Park, CA, USA.
Davide MeiNeuroscience and Neurogenetics Department, Meyer Children's Hospital, Florence, Italy.ORCID http://orcid.org/0000-0001-6790-6251
Manuela PendziwiatDepartment of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany.
Sabine KayaInstitut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Massimo DelledonneDepartment of Biotechnology, University of Verona, Strada le Grazie 15, 37134, Verona, Italy.ORCID http://orcid.org/0000-0002-7100-4581
Rachel StraussbergInstitute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
Luciano XumerlePersonal Genomics, Strada le Grazie 15, 37134, Verona, Italy.ORCID http://orcid.org/0000-0003-4518-3958
Brigid ReganEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia.
Douglas CromptonEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia.
Anne-Fleur van RootselaarAmsterdam UMC, University of Amsterdam, Department of Neurology and Clinical Neurophysiology, Amsterdam Neuroscience, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0002-8376-9098
Anthony CorrellGenetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Rachael CatfordGenetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Francesca BisulliIRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
Shreyasee ChakrabortyPacific Biosciences, Menlo Park, CA, USA.
Sara BaldassariIRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.ORCID http://orcid.org/0000-0003-4851-2796
Paolo TinuperIRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
Kirston BartonKinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.
Shaun CarswellKinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.
Martin SmithKinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.
Alfredo BerardelliDepartment of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, 00185, Rome, Italy.
Renee CarrollAdelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.
Alison GardnerAdelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.
Kathryn L FriendGenetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Ilan BlattDepartment of Neurology, Sheba Medical Center, Tel Hashomer, Israel.
Michele IacominoLaboratory of Neurogenetics, IRCCS Istituto "G. Gaslini", Genova, Italy.
Carlo Di BonaventuraDepartment of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, 00185, Rome, Italy.
Salvatore StrianoDepartment of Neurology, Federico II University, Napoli, Italy.
Julien BurattiAP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France.ORCID http://orcid.org/0000-0002-0901-0905
Boris KerenAP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France.
Caroline NavaINSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France.
Sylvie ForlaniINSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France.
Gabrielle RudolfInstitut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.ORCID http://orcid.org/0000-0002-2050-3911
Edouard HirschDepartment of Neurology, Strasbourg University Hospital, Strasbourg, France.
Eric LeguernAP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France.
Pierre LabaugeMS Unit, Montpellier University Hospital, Montpellier, France.
Simona BalestriniDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID http://orcid.org/0000-0001-5639-1969
Josemir W SanderDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Zaid AfawiTel Aviv University Medical School, 69978, Tel Aviv, Israel.
Ingo HelbigDepartment of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany.
Hiroyuki IshiuraDepartment of Neurology, the University of Tokyo Hospital, Tokyo, Japan.ORCID http://orcid.org/0000-0003-2975-7309
Shoji TsujiDepartment of Neurology, the University of Tokyo Hospital, Tokyo, Japan.ORCID http://orcid.org/0000-0001-5602-5686
Sanjay M SisodiyaDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Giorgio CasariTIGEM - Telethon Institute of Genetics and Medicine, Naples, and San Raffaele University, Milan, Italy.ORCID http://orcid.org/0000-0002-0115-8980
Lynette G SadleirDepartment of Paediatrics and Child Health, University of Otago, Wellington, Wellington, New Zealand.
Riaan van CollerUniversity of Pretoria, Pretoria, South Africa.ORCID http://orcid.org/0000-0001-6250-363X
Marina A J TijssenDepartment of Neurology, University of Groningen, Groningen, The Netherlands.ORCID http://orcid.org/0000-0001-5783-571X
Karl Martin KleinDepartment of Neurology, Epilepsy Center Frankfurt Rhine-Main, Goethe University, Frankfurt am Main, Frankfurt, Germany.ORCID http://orcid.org/0000-0002-6654-1665
Arn M J M van den MaagdenbergDepartments of Human Genetics & Neurology, Leiden University Medical Centre, Leiden, The Netherlands.
Federico ZaraLaboratory of Neurogenetics, IRCCS Istituto "G. Gaslini", Genova, Italy.
Renzo GuerriniNeuroscience and Neurogenetics Department, Meyer Children's Hospital, Florence, Italy.ORCID http://orcid.org/0000-0002-7272-7079
Samuel F BerkovicEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia.ORCID http://orcid.org/0000-0003-4580-841X
Tommaso PippucciMedical Genetics Unit, Sant'Orsola-Malpighi University Hospital, Bologna, Italy.
Laura CanafogliaNeurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID http://orcid.org/0000-0002-5385-761X
Melanie BahloPopulation Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, VIC, Australia.ORCID http://orcid.org/0000-0001-5132-0774
Pasquale StrianoPediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "G. Gaslini", Genova, Italy.ORCID http://orcid.org/0000-0002-6065-1476
Ingrid E SchefferEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia.ORCID http://orcid.org/0000-0002-2311-2174
Francesco BrancatiInstitute of Translational Pharmacology, National Research Council, Rome, Italy.ORCID http://orcid.org/0000-0003-3624-2354
Christel DepienneInstitut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.ORCID http://orcid.org/0000-0002-7212-9554
Jozef GeczAdelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia. jozef.gecz@adelaide.edu.au.ORCID http://orcid.org/0000-0002-7884-6861
The University of Melbourne · AUIstituto delle Scienze Neurologiche di Bologna · ITThe University of Adelaide · AUCentre National de la Recherche Scientifique · FRGarvan Institute of Medical Research · AUIstituto Giannina Gaslini · ITNational Hospital for Neurology and Neurosurgery · GBSouth Australia Pathology · AUEssen University Hospital · DEFederico II University Hospital · ITFondazione IRCCS Istituto Neurologico Carlo Besta · ITIstituto Neurologico Mediterraneo · ITMeyer Children's Hospital · ITPacific Biosciences (United States) · USSorbonne Université · FRTel Aviv University · ILAmsterdam Neuroscience · NLChildren's Hospital of Philadelphia · USChristian-Albrechts-Universität zu Kiel · DEGoethe University Frankfurt · DE
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and overt myoclonic or generalised tonic-clonic seizures. Four independent loci have been implicated in FAME on chromosomes (chr) 2, 3, 5 and 8. Using whole genome sequencing and repeat primed PCR, we provide evidence that chr2-linked FAME (FAME2) is caused by an expansion of an ATTTC pentamer within the first intron of STARD7. The ATTTC expansions segregate in 158/158 individuals typically affected by FAME from 22 pedigrees including 16 previously reported families recruited worldwide. RNA sequencing from patient derived fibroblasts shows no accumulation of the AUUUU or AUUUC repeat sequences and STARD7 gene expression is not affected. These data, in combination with other genes bearing similar mutations that have been implicated in FAME, suggest ATTTC expansions may cause this disorder, irrespective of the genomic locus involved.
Indexed as
DNA Repeat ExpansionIntronsAdolescentAdultCarrier ProteinsChildChild, PreschoolChromosome MappingChromosomes, Human, Pair 2Epilepsies, MyoclonicFemaleHumansMaleMiddle AgedPedigreeYoung AdultCarrier ProteinsSTARD7 protein, human
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